<i>FMR1</i> Disorders: Basics of Biology and Therapeutics in Development
Fragile X Syndrome (FXS) presents with a constellation of phenotypes, including trouble regulating emotion and aggressive behaviors, disordered sleep, intellectual impairments, and atypical physical development. Genetic study of the X chromosome revealed that substantial repeat expansion of the 5′ e...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2024-12-01
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| Series: | Cells |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2073-4409/13/24/2100 |
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| Summary: | Fragile X Syndrome (FXS) presents with a constellation of phenotypes, including trouble regulating emotion and aggressive behaviors, disordered sleep, intellectual impairments, and atypical physical development. Genetic study of the X chromosome revealed that substantial repeat expansion of the 5′ end of the gene fragile X messenger ribonucleoprotein 1 (<i>FMR1</i>) promoted DNA methylation and, consequently, silenced expression of <i>FMR1</i>. Further analysis proved that shorter repeat expansions in <i>FMR1</i> also manifested in disease at later stages in life. Treatment and therapy options do exist, but they only manage symptoms. Up to now, no cure for <i>FMR1</i> disorders exists. In this review, we aim to provide an overview of <i>FMR1</i> biology and the latest research focused on developing therapeutic interventions that can potentially prevent and/or reverse FXS. |
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| ISSN: | 2073-4409 |